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SIAH2 Gene

protein-coding   GIFtS: 63
GCID: GC03M150458

Siah E3 Ubiquitin Protein Ligase 2

(Previous names: seven in absentia (Drosophila) homolog 2, seven in absentia...)
  See SIAH2-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Siah E3 Ubiquitin Protein Ligase 21 2     E3 Ubiquitin-Protein Ligase SIAH22
Seven In Absentia Homolog 22 3     siah-22
hSiah22 3     EC 6.3.2.-3
Seven In Absentia (Drosophila) Homolog 21     Siah-23
Seven In Absentia Homolog 2 (Drosophila)1     EC 6.3.28

External Ids:    HGNC: 108581   Entrez Gene: 64782   Ensembl: ENSG000001817887   OMIM: 6022135   UniProtKB: O432553   

Export aliases for SIAH2 gene to outside databases

Previous GC identifers: GC03M147291 GC03M151291 GC03M151740 GC03M151779 GC03M151941 GC03M147832


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SIAH2 Gene:
This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3
ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity
of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. (provided by RefSeq, Jul
2008)

GeneCards Summary for SIAH2 Gene:
SIAH2 (siah E3 ubiquitin protein ligase 2) is a protein-coding gene. Diseases associated with SIAH2 include hypoxia. GO annotations related to this gene include ubiquitin-protein ligase activity and ubiquitin conjugating enzyme binding. An important paralog of this gene is SIAH3.

UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of
target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity
either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3
complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in
transcription regulation (POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1),
and a protein involved in synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal
degradation of DYRK2 in response to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle,
transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated
degradation of TRAF2, whereas SIAH1 can not. Promotes monoubiquitination of SNCA

Gene Wiki entry for SIAH2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the SIAH2 gene promoter:
         Max1   USF1   AML1a   E47   IRF-2   CP2   USF-1   SEF-1 (1)   c-Myc   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIAH2 promoter sequence
   Search Chromatin IP Primers for SIAH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SIAH2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25

SIAH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIAH2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M150458:  view genomic region     (about GC identifiers)

Start:
150,458,910 bp from pter      End:
150,481,264 bp from pter
Size:
22,355 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase SIAH2  
Size: 324 amino acids; 34615 Da
Subunit: Homodimer. Interacts with UBE2E2. Interacts with PEG3 (By similarity). Interacts with VAV1, without
mediating its ubiquitin-mediated degradation. Interacts with CACYBP/SIP. Probable component of some large E3
complex possibly composed of UBE2D1, SIAH2, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with PEG10, which may
inhibit its activity. Interacts with EGLN2 and SNCAIP. Interacts with DYRK2
Secondary accessions: O43270

Explore the universe of human proteins at neXtProt for SIAH2: NX_O43255

Explore proteomics data for SIAH2 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-28 by MAPK14, which mediates the degradation by the proteasome of EGLN3 (By similarity).
    Phosphorylated at Ser-28 by DYRK2; this increases the ubiquitin ligase activity and promotes degradation of EGLN31
  • Ubiquitination2 at Lys13, Lys107
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SIAH2 (O43255) (see all 12)
     YRLELNG  IRNLAME  SDCLVFD  RRRLTWEA 


    See SIAH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005058.3  
    ENSEMBL proteins: 
     ENSP00000322457   ENSP00000417619  
    Reactome Protein details: O43255

    SIAH2 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for SIAH2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR008974 TRAF-like
     IPR018121 7-in-absentia-prot_TRAF-dom
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR004162 SINA_like

    Graphical View of Domain Structure for InterPro Entry O43255

    ProtoNet protein and cluster: O43255

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Domain: The RING-type zinc finger domain is essential for ubiquitin ligase activity
    Domain: The SBD domain (substrate-binding domain) mediates the homodimerization and the interaction with substrate
    proteins. It is related to the TRAF family (By similarity)
    Similarity: Belongs to the SINA (Seven in absentia) family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 SIAH-type zinc finger


    Find genes that share domains with SIAH2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIAH2_HUMAN, O43255
    Function: E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of
    target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a
    thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity
    either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3
    complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in
    transcription regulation (POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1),
    and a protein involved in synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal
    degradation of DYRK2 in response to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle,
    transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated
    degradation of TRAF2, whereas SIAH1 can not. Promotes monoubiquitination of SNCA
    Enzyme regulation: Inhibited by interaction with SNCAIP (isoform 2, but not isoform 1). May be inhibited by
    interaction with PEG10

         Genatlas biochemistry entry for SIAH2:
    Drosophila seven in absentia (sina) homolog 2,involved in vertebrate (? photoreceptor) development,widely
    expressed,also mediating through RING finger,ubiquitin-conjugating enzyme (E2)-dependent ubiquitination

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity TAS10207103
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0031624ubiquitin conjugating enzyme binding IEA--
         
    Find genes that share ontologies with SIAH2           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Siah2):
     cellular  mortality/aging  skeleton 

    Find genes that share phenotypes with SIAH2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Siah2tm1Ddlb for SIAH2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SIAH2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SIAH2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIAH2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIAH2

    miRNA
    Products:
        
    miRTarBase miRNAs that target SIAH2:
    hsa-mir-30c-5p (MIRT047977), hsa-mir-503-5p (MIRT041115)

    Block miRNA regulation of human, mouse, rat SIAH2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIAH2 (see all 29):
    hsa-miR-320a hsa-miR-30c hsa-miR-146a hsa-miR-30d hsa-miR-1257 hsa-miR-340 hsa-miR-371-5p hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidSIAH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SIAH2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIAH2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SIAH2_HUMAN, O43255: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    endosome2
    extracellular2
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm TAS10207103
    GO:0005769early endosome IEA--
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--

    Find genes that share ontologies with SIAH2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SIAH2 About    
    See pathways by source

    SuperPathContained pathways About
    1Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3Netrin-1 signaling
    Netrin-1 signaling


    Find genes that share SuperPaths with SIAH2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SIAH2
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway

    1 BioSystems Pathway for SIAH2
        Parkin-Ubiquitin Proteasomal System pathway

    1 Reactome Pathway for SIAH2
        Netrin-1 signaling


    UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including SIAH2: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SIAH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SIAH2 (O432551, 2, 3 ENSP000003224574) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATN1P542592, 3, ENSP000003490764MINT-2863199 I2D: score=3 STRING: ENSP00000349076
    HIPK3Q9H4222, 3MINT-61751 I2D: score=3 
    SH3RF1Q7Z6J01, 3, ENSP000002846374EBI-948141,EBI-311339 I2D: score=1 STRING: ENSP00000284637
    CACYBPQ9HB712, 3, ENSP000003566524MINT-19098 I2D: score=3 STRING: ENSP00000356652
    PEG10Q86TG73, ENSP000004175874I2D: score=3 STRING: ENSP00000417587
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007049cell cycle IEA--
    GO:0007264small GTPase mediated signal transduction TAS10207103
    GO:0007275multicellular organismal development ----
    GO:0007411axon guidance TAS--

    Find genes that share ontologies with SIAH2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SIAH2

    4 HMDB Compounds for SIAH2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SIAH2 gene: 
    NM_005067.5  

    Unigene Cluster for SIAH2:

    Siah E3 ubiquitin protein ligase 2
    Hs.477959  [show with all ESTs]
    Unigene Representative Sequence: NM_005067
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312960(uc003eyi.3) ENST00000482706 ENST00000472885
    miRNA
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    hsa-miR-320a hsa-miR-30c hsa-miR-146a hsa-miR-30d hsa-miR-1257 hsa-miR-340 hsa-miR-371-5p hsa-miR-218
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      QuantiTect SYBR Green Assays in human, mouse, rat SIAH2
      QuantiFast Probe-based Assays in human, mouse, rat SIAH2

    Additional mRNA sequence: 

    AK223565.1 BC013082.2 U76248.1 Y15268.1 

    9 DOTS entries:

    DT.99936786  DT.217384  DT.100744996  DT.120894480  DT.100783404  DT.100832690  DT.95136210  DT.95268701 
    DT.95268704 

    Selected AceView cDNA sequences (see all 175):

    CB306774 T35854 AK055290 AW468725 BU738357 BG259901 AA486935 Y15268 
    CF264703 BI333769 BM966816 CK823255 AA716690 BM712637 BM980324 BP368159 
    CB120456 CA311116 AA516115 T31932 CR610024 AI570518 AW183148 BU660111 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SIAH2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b
    SP1:              -     -                           
    SP2:                    -                           
    SP3:                                                


    ECgene alternative splicing isoforms for SIAH2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SIAH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATTAGTTT
    SIAH2 Expression
    About this image


    SIAH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Inner Nuclear Layer
     
     Bone (Muscoskeletal System)
             Zeugopod Growth Plate
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
    SIAH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SIAH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.477959

    UniProtKB/Swiss-Prot: SIAH2_HUMAN, O43255
    Tissue specificity: Widely expressed at low level

        Pathway & Disease-focused RT2 Profiler PCR Array including SIAH2: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SIAH2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIAH2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SIAH2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Siah21 , 5 seven in absentia 21, 5 92.57(n)1
    97.83(a)1
      3 (28.68 cM)5
    204391  NM_009174.31  NP_033200.21 
     586749385 
    chicken
    (Gallus gallus)
    Aves SIAH21 seven in absentia homolog 2 (Drosophila) 83.91(n)
    92.16(a)
      429164  XM_426719.4  XP_426719.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia siah2-A2 seven in absentia homolog 2 80.59(n)    AF155509.1 
    zebrafish
    (Danio rerio)
    Actinopterygii siah2l1 seven in absentia homolog 2 (Drosophila)-like 78.92(n)
    91.7(a)
      378728  NM_200427.1  NP_956721.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sina3 R7 cell fate commitment 81(a)
    (best of 2)
      3 73D3   --
    worm
    (Caenorhabditis elegans)
    Secernentea Y37E11AR.23   -- 67(a)   IV(3744137-3747213)   --


    ENSEMBL Gene Tree for SIAH2 (if available)
    TreeFam Gene Tree for SIAH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SIAH2 gene
    SIAH32  SIAH12  
    2 SIMAP similar genes for SIAH2 using alignment to 2 protein entries:     SIAH2_HUMAN (see all proteins):
    SIAH1    SIAH3

    Find genes that share paralogs with SIAH2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SIAH2 (see all 443)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1447470941,2
    C--150458421(+) TCCAG-/CCCCTCT 1 -- ds50010--------
    rs113119731,2
    F--150458432(+) GTCTC-/A/AA  
            
    AAAAA
    1 -- ds50012NA CSA 4
    rs668415161,2
    C--150458440(-) TTTTT-/TTTTTT 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs579870301,2
    C--150458448(+) AAAAAG/AAAAAG 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs6434831,2
    C,F,A,H--150458449(+) AAAAAG/AAAAGA 1 -- ds50013Minor allele frequency- A:0.50NA WA 6
    rs575257831,2
    C--150458452(+) AAAAA-/A/GGAAAG 1 -- ds50010--------
    rs1904266171,2
    --150458498(+) TGCTGA/GGCATT 1 -- ds50010--------
    rs4812361,2
    C,F,A,H--150458543(+) GGGTTG/TGGACT 1 -- ds500127Minor allele frequency- C:0.01EA NA MN NS WA 2682
    rs1806853541,2
    --150458547(+) TGGGAC/TTGAGG 1 -- ds50010--------
    rs730069881,2
    C,F--150458678(+) AGAAAC/TGACAG 1 -- ds50014Minor allele frequency- T:0.11WA CSA 123

    HapMap Linkage Disequilibrium report for SIAH2 (150458910 - 150481264 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SIAH2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4061CNV Insertion18451855
    esv25944CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SIAH2
    DNA2.0 Custom Variant and Variant Library Synthesis for SIAH2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602213    OMIM disorders: --

    1 disease for SIAH2:    
    About MalaCards
    hypoxia


    Find genes that share disorders with SIAH2           About GenesLikeMe

    Genetic Association Database (GAD): SIAH2
    Human Genome Epidemiology (HuGE) Navigator: SIAH2 (2 documents)

    Export disorders for SIAH2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SIAH2 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with SIAH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian homologs of seven in absentia regulate DCC via the ubiquitin-proteasome pathway. (PubMed id 9334332)1, 2, 3 Hu G.... Fearon E.R. (Genes Dev. 1997)
    2. Mutual regulation between SIAH2 and DYRK2 controls hypoxic and genotoxic signaling pathways. (PubMed id 22878263)1, 2 Perez M.... Calzado M.A. (J. Mol. Cell Biol. 2012)
    3. Synphilin-1A inhibits seven in absentia homolog (SIAH) and modulates alpha-synuclein monoubiquitylation and inclusion formation. (PubMed id 19224863)1, 2 Szargel R.... Engelender S. (J. Biol. Chem. 2009)
    4. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1. (PubMed id 12810624)1, 2 Okabe H.... Nakamura Y. (Cancer Res. 2003)
    7. Stress-induced decrease in TRAF2 stability is mediated by Siah2. (PubMed id 12411493)1, 2 Habelhah H.... Ronai Z. (EMBO J. 2002)
    8. Siah-1, SIP, and Ebi collaborate in a novel pathway for beta-catenin degradation linked to p53 responses. (PubMed id 11389839)1, 2 Matsuzawa S. and Reed J.C. (Mol. Cell 2001)
    9. Regulation of BOB.1/OBF.1 stability by SIAH. (PubMed id 11483518)1, 2 Boehm J.... Wirth T. (EMBO J. 2001)
    10. hSiah2 is a new Vav binding protein which inhibits Vav-mediated signaling pathways. (PubMed id 10207103)1, 2 Germani A.... Varin-Blank N. (Mol. Cell. Biol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6478 HGNC: 10858 AceView: SIAH2 Ensembl:ENSG00000181788 euGenes: HUgn6478
    ECgene: SIAH2 H-InvDB: SIAH2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SIAH2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SIAH2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SIAH2 gene:
    Search GeneIP for patents involving SIAH2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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